John (Pei-Wen) Chiang, PhD, FACMG, Director of CEI Molecular Diagnostics Laboratory
The Casey Eye Institute Molecular Diagnostics Laboratory is a CLIA certified laboratory providing comprehensive molecular testing for genetic diseases involving the eye. Our mission is to identify causative genetic mutation(s) in a timely and cost effective manner.
We would like to share our philosophy and service delivery model. In essence, client satisfaction is our core value and purpose.
In honor of sequencing over 500 people in our Stargardt / Macular Dystrophy NGS Panel, we are reducing the price of the panel to $500 and expanding the panel to include eight genes in total: ABCA4, BEST1, EFEMP1, ELOVL4, IMPG1, IMPG2, PROM1, and RDS. Our new "Lab On A Chip" system incorporates cutting-edge technology with our expertise in PCR enrichment to offer the most comprehensive Stargardt / Macular Dystrophy testing available today.
Tier I testing - NGS of retinal dystrophy genes (128 genes; $2,500)
Tier II testing - Array CGH analysis of eye genes ($650)
For clients ordering both Tier I and Tier II testing (when indel mutations are identified), we offer free parental testing to confirm indel mutations by either PCR and gel electrophoresis or by TaqMan qPCR.
CASEY GENETICIST AND COLLABORATORS UNCOVER GENE LINKED TO SEVERE CHILDHOOD BLINDNESS
For nearly three years, Troy and Jennifer Stevens struggled to learn the identity of the gene responsible for their son Gavin’s blindness. Although doctors were able to diagnose him with Leber congenital amaurosis – a rare form of inherited childhood blindness – the first round of genetic testing could not pinpoint the defective gene.